ultrasound diagnosis of fatal anomalies

TRISOMY 13
References
Hengstschlager M, Bettelheim D, Repa C, Lang S,
Deutinger J, Bernaschek G. A fetus with trisomy 9 p
and trisomy 10 p originating from unbalanced segregation
of a maternal complex chromosome rearrangement
t(4;10;9). Fetal Diagn Ther 2002; 17: 243–
6.
McDuffie RSJ. Complete trisomy 9: case report with ultrasound
findings. Am J Perinatol 1994; 11: 80–4.
Merino A, De Perdigo A, Nombalais F, Yvinec M, Le Roux
MG, Bellec V. Prenatal diagnosis of trisomy 9 mosaicism:
two new cases. Prenat Diagn 1993; 13: 1001–7.
Murta C, Moron A, Avila M, Franca L, Vargas P. Reverse
flow in the umbilical vein in a case of trisomy 9. Ultrasound
Obstet Gynecol 2000; 16: 575–7.
Pinette MG, Pan Y, Chard R, Pinette SG, Blackstone J. Prenatal
diagnosis of nonmosaic trisomy 9 and related
ultrasound findings at 11.7 weeks. J Matern Fetal
Med 1998; 7: 48–50.
Saura R, Traore W, Taine L, et al. Prenatal diagnosis of
trisomy 9: six cases and a review of the literature.
Prenat Diagn 1995; 15: 609–14.
Tseng JJ, Chou MM, Shih-Chu Ho E. Varix of the portal
vein: prenatal diagnosis in a fetus with mosaic
trisomy 9 syndrome. Prenat Diagn 2002; 22: 495–7.
von Kaisenberg CS, Caliebe A, Krams M, Hackeloer BJ,
Jonat W. Absence of 9q22–9 qter in trisomy 9 does
not prevent a Dandy–Walker phenotype. Am J Med
Genet 2000; 95: 425–8.
Trisomy 10
Definition: Additional chromosome 10; usually
fatal except when mosaicism is present.
Incidence: Seen in about 2% of spontaneous miscarriages.
Postnatally, extremely rare.
Ultrasound findings: Intrauterine growth restriction,
nuchal edema, hypertelorism, cardiac
anomaly, cryptorchism. In complete trisomy 10
additionally facial clefts, micrognathia, polydactyly,
syndactyly of the toes.
Differential diagnosis (of nuchal edema):
Trisomy 18, trisomy 21, Turner syndrome, multiple
pterygium syndrome, Pena–Shokeir syndrome,
Roberts syndrome, Smith–Lemli–Opitz
syndrome, and others.
Prognosis: Complete trisomy 10 is fatal; infants
with mosaic forms may survive with mental impairment
and short growth, but life expectancy
is severely reduced.
Trisomy 13 (Patausyndrome)
Definition: Additional chromosome 13. The
phenotype is characterized by severe anomalies
and development disorder.
References
Brizot ML, Schultz R, Patroni LT, Lopes LM, Armbruster-
Moraes E, Zugaib M. Trisomy 10: ultrasound features
and natural history after first trimester diagnosis.
Prenat Diagn 2001; 21: 672–5.
Hengstschlager M, Bettelheim D, Repa C, Lang S,
Deutinger J, Bernaschek G. A fetus with trisomy 9 p
and trisomy 10 p originating from unbalanced segregation
of a maternal complex chromosome rearrangement
t(4;10;9). Fetal Diagn Ther 2002; 17: 243–
6.
Knoblauch H, Sommer D, Zimmer C, et al. Fetal trisomy
10 mosaicism: ultrasound, cytogenetic and morphologic
findings in early pregnancy. Prenat Diagn 1999;
19: 379–82.
Martin-Denavit T, Attia-Sobol J, Theuil J, et al. First prenatal
diagnosis of partial trisomy 10 and partial monosomy
15 derived from a maternal translocation
(10;15)(q11;q13). Prenat Diagn 2002; 22: 487–8.
Schwarzler P, Moscoso G, Bernard JP, Hill L, Senat MV,
Ville Y. Trisomy 10: first-trimester features on ultrasound,
fetoscopy and postmortem of a case associated
with increased nuchal translucency. Ultrasound
Obstet Gynecol 1999; 13 : 67–70.
Clinical history/genetics: Free trisomy 13 correlates
with maternal age. The risk of recurrence is
about 1% above the expected risk due to maternal
age. In the rare cases of translocation trisomy,
which is a result of familial balanced translocation,
a much higher risk of recurrence is to be expected
(depending on the chromosome involved
in the Robertson translocation and the sex of the
carrier). The triple test does not give any indication
of trisomy 13. Trisomy 13 is the third most
frequent trisomy in live-born cases. Three forms
are known:
Free trisomy 13: chromosome 13 is present as
independent copies.
Translocation trisomy 13: Chromosome 13 is a
part of translocation chromosome. Usually, this
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